Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930004_119930006del , CM000685.2:g.119930004_119930006del | GRCh38 |
| NC_000023.10:g.119063967_119063969del , CM000685.1:g.119063967_119063969del | GRCh37 |
| NC_000023.9:g.118947995_118947997del | NCBI36 |
| NG_021260.1:g.18767_18769del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371410.5:c.1073+10_1073+12del MANE Select | ENSP00000360464.3:n.1073+10_1073+12del | |
| ENST00000652253.1:c.1069+10_1069+12del | ||
| ENST00000371410.4:c.1073+10_1073+12del | ENSP00000360464.3:n.1073+10_1073+12del | |
| ENST00000477789.5:n.2001+10_2001+12del | ||
| NM_024528.3:c.1073+10_1073+12del | NP_078804.2:n.1073+10_1073+12del | |
| XM_017029842.1:c.776+10_776+12del | XP_016885331.1:n.776+10_776+12del | |
| NM_024528.4:c.1073+10_1073+12del MANE Select | NP_078804.2:n.1073+10_1073+12del |